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Developmental Medicine and Child... Oct 2023This overview of Cochrane systematic reviews (CSRs) reports on current evidence on the effectiveness of rehabilitation interventions for individuals with cerebral palsy... (Review)
Review
AIM
This overview of Cochrane systematic reviews (CSRs) reports on current evidence on the effectiveness of rehabilitation interventions for individuals with cerebral palsy (CP) and the quality of the evidence.
METHOD
Following the inclusion criteria defined by the World Health Organization, all CSRs tagged in the Cochrane Rehabilitation database that were relevant for individuals with CP were included. A mapping synthesis was used to group outcomes and comparisons of included CSRs indicating the effect of rehabilitation interventions and the certainty of evidence.
RESULTS
A total of eight CSRs were included in the evidence map. The effect of interventions varied across comparisons and the certainty of evidence was inconsistent, ranging from high to very low. The best evidence was found for botulinum neurotoxin A (BoNT-A) combined with occupational therapy in the management of spasticity. However, the effect of BoNT-A on drooling and salivation remains unclear. A paucity of randomized controlled trials studying treatments for both dystonia and postural deformities was noted.
INTERPRETATION
This review emphasizes the need to further investigate the effectiveness and cost-benefit of rehabilitation interventions for individuals with CP.
WHAT THIS PAPER ADDS
The quality and quantity of evidence on rehabilitation interventions for cerebral palsy is limited worldwide. Botulinum neurotoxin A plus occupational therapy showed robust efficacy for the management of upper-limb spasticity. Evidence on sleep-positioning systems for hip migration and trihexyphenidyl for dystonia is scarce.
Topics: Humans; Cerebral Palsy; Botulinum Toxins, Type A; Dystonia; Systematic Reviews as Topic; Sialorrhea
PubMed: 36908077
DOI: 10.1111/dmcn.15572 -
Parkinson's Disease 2023National as well as international Parkinson's disease (PD) treatment guidelines are available to guide clinicians. Previous research has shown that nonmotor symptoms...
BACKGROUND
National as well as international Parkinson's disease (PD) treatment guidelines are available to guide clinicians. Previous research has shown that nonmotor symptoms (NMS) are pronounced in late-stage PD and has suggested that current treatment is insufficient and could be improved.
OBJECTIVES
The aim of this study was to investigate to which degree the national and international treatment guidelines are followed in the treatment of NMS in late-stage PD.
METHODS
This Swedish cohort was part of the Care of Late-Stage Parkinsonism (CLaSP) study. Late-stage PD was defined as Hoehn and Yahr stages IV-V in "on" and/or ≤50% on the Schwab and England Activities of Daily Living (ADL) scale. NMS were assessed with the NMS scale (NMSS), cognition with the Mini-Mental State Examination (MMSE), and depressive symptoms with the Geriatric Depression Scale (GDS-30). Symptomatic individuals were defined as ≥ 6 on an item of the NMSS; for dementia, a cutoff of ≤18 on the MMSE; for depression, a cutoff of ≥10 on the GDS.
RESULTS
All 107 participants exhibited NMS to various degrees and severities; the median NMSS score was 91. Among symptomatic individuals, for depressive symptoms, 37/63 (59%) were treated with antidepressants; for hallucinations and delusions, 9/18 (50%) and 5/13 (38%) were treated with antipsychotics; and for dementia, 9/27 (33%) were treated with rivastigmine and 1 (4%) was treated with donepezil. For orthostatic hypotension, 11/19 (58%) with lightheadedness and 7/8 (88%) with fainting were treated with antihypotensives; for sialorrhea, 2/42 (5%) were treated with botulinum toxin; and for constipation, 19/35 (54%) were treated with laxatives. For insomnia, 4/16 (25%) were treated with hypnotics, and for daytime sleepiness, 1/29 (3%) was treated with psychostimulants.
CONCLUSIONS
The present analyses suggest a need for clinicians to further screen for and treat NMS. Optimizing treatment of NMS according to the national and international treatment guidelines may improve symptomatology and enhance quality of life in late-stage PD.
PubMed: 37854895
DOI: 10.1155/2023/6667339 -
Epilepsy & Behavior : E&B Sep 2023Our study aimed to describe the prevalence and characteristics of gastrointestinal and eating problems in Dravet syndrome (DS) and other SCN1A-related seizure disorders...
OBJECTIVE
Our study aimed to describe the prevalence and characteristics of gastrointestinal and eating problems in Dravet syndrome (DS) and other SCN1A-related seizure disorders and to determine the association between the occurrence of gastrointestinal and eating problems and core features of DS.
METHODS
Gastrointestinal and eating problems were assessed with a questionnaire in a Dutch cohort of participants with an SCN1A-related seizure disorder. Associations between the number of gastrointestinal and eating problems and core features of DS, seizure severity, level of intellectual disability, impaired mobility, behavioral problems, and use of anti-seizure medication, were explored by multivariate ordinal regression analyses. Symptoms were divided into the categories dysphagia-related, behavioral, and gastrointestinal, and were assessed separately.
RESULTS
One hundred sixty-nine participants with an SCN1A-related seizure disorder, of whom 118 (69.8%) with DS and 51 (30.2%) with Generalized Epilepsy with Febrile Seizures Plus / Febrile Seizures (GEFS+/FS), the non-DS phenotype, were evaluated. Gastrointestinal and eating problems were highly prevalent in DS participants, 50.8% had more than three symptoms compared to 3.9% of non-DS participants. Of participants with DS, 17.8% were fully or partly fed by a gastric tube. Within the three different symptom categories, the most prevalent dysphagia-related symptom was drooling (60.7%), distraction during mealtimes (61.4%) the most prevalent behavioral symptom, and constipation and loss of appetite (both 50.4%) the most prevalent gastrointestinal symptoms. DS participants who use a wheelchair (odds ratio (OR) 4.9 95%CI (1.9-12.8) compared to walking without aid), who use ≥3 anti-seizure medications (ASM) (OR 5.9 95%CI (1.9-18.2) compared to <3 ASM) and who have behavioral problems (OR 3.0 95%CI (1.1-8.1) compared to no behavioral problems) had more gastrointestinal and eating problems.
CONCLUSION
Gastrointestinal and eating problems are frequently reported symptoms in DS. Distinguishing between symptom categories will lead to tailored management of patients at risk, will improve early detection, and enable a timely referral to a dietitian, behavioral expert, and/or speech therapist, ultimately aiming to improve the quality of life of both patients and caregivers.
Topics: Humans; NAV1.1 Voltage-Gated Sodium Channel; Quality of Life; Deglutition Disorders; Mutation; Epilepsy; Epilepsies, Myoclonic
PubMed: 37523795
DOI: 10.1016/j.yebeh.2023.109361 -
Cureus Jul 2023Wilson's disease (WD) is an inherited disorder characterized by the accumulation of copper in various organs, particularly the liver, central nervous system, and cornea....
Wilson's disease (WD) is an inherited disorder characterized by the accumulation of copper in various organs, particularly the liver, central nervous system, and cornea. The clinical presentation of WD can vary widely. Diagnosis requires a combination of clinical and biochemical findings. We present a case of a 20-year-old woman who presented to the Emergency Room with progressive motor decline. She exhibited characteristic neurological symptoms and signs, such as hypomimia, bradyphrenia, bradykinesia, dysarthria, sialorrhea, upper limb dystonia, and wing-beating tremor. Ophthalmological examination revealed corneal deposits known as Kayser-Fleischer rings. Laboratory investigations demonstrated low levels of ceruloplasmin and elevated serum copper. Brain MRI showed typical signs of copper deposition in the basal ganglia. The Leipzig criteria were used to confirm the diagnosis. Treatment with penicillamine and zinc acetate resulted in symptom improvement. This case highlights the diverse presentation of WD and the importance of early diagnosis and prompt treatment initiation.
PubMed: 37644923
DOI: 10.7759/cureus.42655 -
Cureus Jan 2024Parkinson's disease (PD) is a terminal, debilitating neurodegenerative disorder typically affecting individuals over 60. It is associated with various conditions that... (Review)
Review
Parkinson's disease (PD) is a terminal, debilitating neurodegenerative disorder typically affecting individuals over 60. It is associated with various conditions that drastically affect the patient's quality of life (QoL). Although there is no cure for PD, its symptoms can be significantly improved and even resolved through different treatments. Mainstay treatments for PD include levodopa combined with carbidopa, dopamine agonists, and even deep brain stimulation (DBS) of the subthalamic nucleus. New treatment methods have emerged, such as botulinum toxin (BoNT), which further improve symptoms and, thus, the QoL of patients with PD. Botulinum toxin is a potent neurotoxin produced by that typically causes descending paralysis by suppressing acetylcholine secretion. Serotypes used to treat various disorders include serotype A (BoNT-A) and serotype B (BoNT-B). This paper aims to evaluate the outcomes of BoNT injection on different symptoms associated with PD. An extensive review using PubMed, ScienceDirect, and ProQuest articles concerning 'botulinum toxin and Parkinson's disease' was done per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, resulting in 23,803 articles. After applying strict inclusion and exclusion criteria, the total number of articles was finally 41. The results showed that movement disorders were a common occurrence in PD, consisting of tremors, dystonia, and freezing of gait (FOG), with tremors being the most common symptom. Tremors and dystonia were significantly improved following BoNT-A, correlating with significant improvements in various scales subjectively and objectively evaluating the symptoms and QoL. In contrast, FOG was not significantly improved by either BoNT-A or BoNT-B. Pain is associated with movement disorders such as PD and was the primary indication for the administration of BoNT; studies found pain and QoL were significantly improved following BoNT injection. Quality of life can also be affected by sialorrhea and overactive bladder, which often occur as the disease progresses. Injections of BoNT-A and BoNT-B were shown to significantly improve saliva production, flow rate, drooling frequency, voiding frequency, and urinary urge incontinence. Across all studies analyzed, it is evident that BoNT may have a significant effect on improving the QoL of patients suffering from PD. While research continues to find a cure or stop the progression of PD, it remains critical to continue focusing on improving patients' QoL. Future research should evaluate whether BoNT can be used to successfully treat other symptoms of PD, such as epiphora or constipation.
PubMed: 38435899
DOI: 10.7759/cureus.53309 -
Cureus Dec 2023Amyotrophic lateral sclerosis (ALS) is a degenerative disease characterized by motor dysfunction. Currently, treatment options are limited and management is based mostly...
INTRODUCTION
Amyotrophic lateral sclerosis (ALS) is a degenerative disease characterized by motor dysfunction. Currently, treatment options are limited and management is based mostly on symptom control and quality of life optimization, so palliative care plays a fundamental role. Our objective was to characterize the ALS population in Madeira Island that was referenced and/or followed by a palliative care unit over a five-year period.
METHODS
Longitudinal, retrospective, descriptive, and observational study to analyze patients with ALS who were referred and/or followed by a palliative care unit during a five-year period, between 2017 and 2021. Patient's medical electronic and physical records were analyzed to gather data. Descriptive and inferential statistical analysis was done using Microsoft Excel and Statistical Package for the Social Sciences (version 28.0.1).
RESULTS
During this five-year period, a total of 38 patients were diagnosed with ALS in Madeira Island and 23 (60.53%) were referred to palliative care. Three patients died before assessment, so 20 (50.63%) were followed by the palliative care team. They had a median life expectancy of 425 days and the median time spent in palliative care was 137 days. Of this population, 56.52% (n=13) was male with an average age of 64 years. The median period from diagnosis to referral was 167 days, with most referrals being made by family medicine (39.13%; n=9) motivated by uncontrolled symptoms (95.65%; n=22). The median period from referral to first assessment by a palliative care physician was 19 days. The Palliative Performance Scale (PPS) and Confusion Assessment Method (CAM) applied on the first visit had a median score of 40% in the former and was negative in 95.00% (n=19) of patients in the latter. Advanced care directives were present in 55.00% (n=11) of patients and all provided care was in accordance with the patient's wishes. The most common symptoms were dysphagia, dyspnea, pain, anxiety, and sialorrhea. The most used drugs were morphine, riluzole, butylscopolamine, bisacodyl, and midazolam. As for other interventions, 55.00% (n=11) of patients underwent noninvasive ventilation (NIV), 15.00% (n=3) were submitted to percutaneous endoscopic gastrostomy (PEG), and one patient (5.00%) was nasogastrically intubated. The death rate was 95.00% (n=19) with 73.68% (n=14) of deaths occurring in the palliative care unit.
CONCLUSION
Literature has shown that there are many advantages to the early inclusion of palliative care in ALS management, achieving effective symptom control and greater quality of life, but also reducing caregiver burden. However, in this study, we found that referrals to palliative care were late and included mostly cases of advanced disease with uncontrolled symptoms.
PubMed: 38264389
DOI: 10.7759/cureus.51048 -
Tobacco Induced Diseases 2024Coronavirus disease (COVID-19) is a worldwide infection characterized by various symptoms. Few studies have examined its oral manifestations. However, there is...
INTRODUCTION
Coronavirus disease (COVID-19) is a worldwide infection characterized by various symptoms. Few studies have examined its oral manifestations. However, there is insufficient information on the oral manifestations of patients with COVID-19 who use tobacco products. Therefore, this cross-sectional study investigated oral symptoms of tobacco-using patients with mild-to-moderate COVID-19.
METHODS
This study used a convenience sample of non-hospitalized patients (aged ≥18 years) with mild-to-moderate COVID-19 diagnosed by polymerized chain reaction (PCR). This study excluded pregnant or lactating women or patients with serious COVID-19 complications, including those who required hospitalization or were on specific medications (antiviral, corticosteroid, antimicrobial, or immunosuppressive). Oral examinations were performed, including labial, buccal, and gingival mucosa, tongue, floor of the mouth, and palate, for any newly developed lesions associated with the onset of COVID-19. The salivary flow was determined using the passive drool collection technique.
RESULTS
Lip dryness, gingivitis, tongue lesions, and taste loss were the most commonly reported oral symptoms in patients with mild-to-moderate COVID-19. The most common general symptoms were tiredness and headache (63.9%), followed by dry cough, myalgia, sore throat, and fever. This study found 139 occurrences of oral symptoms, of which 52 were dry lips (27 tobacco non-users, and 25 tobacco users), and 11 were gingivitis (five non-users, and six tobacco users), and 12 tongue changes (eight non-users, and four tobacco users). Ageusia, or loss of taste sensation, was most commonly reported with or without other oral COVID-19 symptoms (55 occurrences: 36 non-users and 19 tobacco users). No significant differences were found in oral symptoms between tobacco non-users and tobacco users.
CONCLUSIONS
There is a need to expand the routine examination protocol for patients during future respiratory pandemics, as monitoring oral health allows dentists to improve the management of oral sequelae during a pandemic.
PubMed: 38742218
DOI: 10.18332/tid/186531 -
Epilepsia Open Feb 2024We aim to assess the efficacy and tolerance of cannabidiol as adjunctive therapy for Rett syndrome (RTT) patients with epilepsy. We conducted a longitudinal... (Observational Study)
Observational Study
We aim to assess the efficacy and tolerance of cannabidiol as adjunctive therapy for Rett syndrome (RTT) patients with epilepsy. We conducted a longitudinal observational study through a monocentric cohort of 46 patients with RTT. Patients were recruited from March 2020 to October 2022 and were treated with Epidyolex® (cannabidiol, CBD, 100 mg/mL oral solution). In our cohort, 26 patients had associated epilepsy (26/46 [56%]), and 10/26 (38%) were treated with CBD, in combination with clobazam in 50% of cases. The median dose at their last follow-up was 15 mg/kg/day. The median treatment duration was 13 months (range: 1-32 months). CBD reduced the incidence of seizures in seven out of 10 patients (70%) with one seizure-free patient, two patients with a reduction of seizures of more than 75%, and four patients with a decrease of more than 50%. No aggravation of symptoms or adverse effects were observed. Only one patient experienced a transitory drooling and somnolence episode at the CBD initiation. Half of the patients showed a reduction in agitation and/or anxiety attacks, and an improvement in spasticity was reported in 4/10 (40%) of patients. CBD appears to have potential therapeutic value for the treatment of drug-resistant epilepsy in Rett syndrome. CBD is well tolerated and, when used in combination with clobazam, may increase the effectiveness of clobazam alone.
Topics: Humans; Cannabidiol; Clobazam; Anticonvulsants; Rett Syndrome; Epilepsy; Seizures
PubMed: 37485779
DOI: 10.1002/epi4.12796 -
The American Journal of Case Reports Aug 2023BACKGROUND A first psychotic episode requires the exclusion of toxic-metabolic, inflammatory, infective, and neoplastic causes. Wilson disease is a rare, autosomal...
BACKGROUND A first psychotic episode requires the exclusion of toxic-metabolic, inflammatory, infective, and neoplastic causes. Wilson disease is a rare, autosomal recessive disorder of copper metabolism and can present with neuropsychiatric symptoms secondary to copper accumulation in the brain. CASE REPORT We describe the case of a 48-year-old man with parkinsonism on a background of longstanding schizophrenia and psychotic depression in the setting of previously undiagnosed Wilson disease. The common history of neuropsychiatric disturbance and neuroleptic use complicated the assessment of parkinsonism. However, close attention to the temporal appearance of symptoms and signs differentiated his case from drug-induced parkinsonism, which commonly develops hours to weeks after commencement or uptitration of antipsychotic medication. The early features of sialorrhea and dysarthria were also atypical for idiopathic Parkinson disease. The diagnosis was confirmed by serum copper testing and supported by Kayser-Fleischer rings on bedside ophthalmological examination. Magnetic resonance imaging (MRI) of the brain demonstrated copper accumulation in the basal ganglia and pons, contributing to the characteristic neurological manifestations of an akinetic-rigid syndrome with dysarthria. CONCLUSIONS Serum copper testing is easily obtained and should be considered as part of the first-line investigations for new neuropsychiatric disturbances. Although rare, Wilson disease, if diagnosed early, is a potentially treatable and reversible cause of psychosis. With advanced disease, extrapyramidal findings on examination correlate with MRI brain changes, aiding the clinical assessment in differentiating the disease from drug-induced parkinsonism.
Topics: Male; Humans; Middle Aged; Hepatolenticular Degeneration; Copper; Dysarthria; Psychotic Disorders; Parkinsonian Disorders
PubMed: 37583127
DOI: 10.12659/AJCR.940561 -
Molecular Diagnosis & Therapy Jan 2024Saliva can be used for screening and diagnostic purposes. Although multiple saliva collection methods are available, their use in children can be limited due to lack of... (Review)
Review
OBJECTIVE
Saliva can be used for screening and diagnostic purposes. Although multiple saliva collection methods are available, their use in children can be limited due to lack of cooperation, developmental stage, and age. The aim of this scoping review was to comprehensively appraise the different methods of saliva collection among both children and adolescents by assessing the available scientific literature.
METHODS
A literature search was performed using the databases PubMed, Embase, and Web of Science. Eligible studies on saliva collection methods among children and adolescents were included for this review.
RESULTS
The literature search identified 249 eligible articles, of which 205 had a cross-sectional study design. Four distinct saliva collection methods have surfaced: the drooling method, the absorption method, the spitting method, and the suction method. Among infants or children under the age of 6 years, the suction and absorption methods were most preferred. The drooling and spitting methods were only applicable among children above the age of 3 years. When children were not willing to cooperate, the absorption method was most feasible. In adolescents and older children, no specific method was found to be preferred over another method.
CONCLUSION
Overall, saliva collection is well tolerated by children and adolescents, with the absorption and suction methods being preferred with young and uncooperative children.
Topics: Adolescent; Child; Child, Preschool; Humans; Infant; Cross-Sectional Studies; Saliva; Sialorrhea
PubMed: 37950136
DOI: 10.1007/s40291-023-00684-9